A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6957



Internal ID15551918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:72476385..72510507hg38UCSC Ensembl
OuterchrX:71696235..71730357hg19UCSC Ensembl
OuterchrX:71612960..71647082hg18UCSC Ensembl
OuterchrX:71479256..71513378hg17UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg385622
hg195622
hg185622
hg175622
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3799
SamplesNA12878
Known GenesHDAC8
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv6957
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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